Mendelian Inheritance Flashcards

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1
Q

Numerical chromosomal abnormalities are called

A

Aneuploidy. Example, monsomy- Turner syndrome
Trisomy- down syndrome
Tetrasomy..

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2
Q

Monosomy of the sec chromosomes, 45X causese?

A

Turner syndrome

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3
Q

Down syndrome is caused by

A

Presence of an extra chromosome on chromosome 21

Called trisomy 21

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4
Q

Trisomy of the sex chromosome causes

A

Klinefelter syndrome. Gynaecomastia in pectoral region and breast

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5
Q

Examples of x linked dominant inheritance diseases

A

Fragile x syndrome

Incontinentia pigmenti

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6
Q

Examples of sex linked recessive disorders

A

Color blindness

Haemophelia

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7
Q

Y linked inheritance

A

Holandric inheritance

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8
Q

Examples of y linked diseases

A

Hairy ears

Y chromosomes infertility

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9
Q

Y chromosomes infertility causes

A

Caused by deletions of genes in the AZF regions

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10
Q

Types of chromosomal mutations

A

Numerical (Aneuploidy)

Monsomy
Trisomy
Tetrasomy

Structural

Deletions
Inversions
Translocations
Duplications

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